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A New Classification for Hemochromatosis
Hematologists are often consulted to assist in the diagnosis and management of patients with hemochromatosis. In general, hematologists have considered primary (hereditary hemochromatosis) and secondary (iron-loading anemias) disorders in their differential for iron overload. These two categories are clinically and pathophysiologically distinct. Furthermore, hereditary hemochromatosis can be clinically and molecularly heterogeneous.
A multidisciplinary working group from the International Society for the Study of Iron in Biology and Medicine (BIOIRON) proposed a novel hemochromatosis classification scheme intended to be more user friendly for practicing clinicians. The classification includes four groups based on molecular patterns, as follows:
- HFE-related: C282Y homozygosity or compound heterozygosity (C282Y with other HFE pathogenic variants or HFE deletion).
- Non–HFE-related: rare pathogenic variants in other genes (HJV, HAMP, TFR2, or SLC40A1).
- Digenic: double heterozygosity and or double homozygosity/heterozygosity for mutations in two different genes involved in iron metabolism (HFE and/or non-HFE mutations).
- Molecularly undefined: an unequivocal clinical phenotype but no molecular characterization.
Comment
Unlike the former numerical classification (types 1–4 hereditary hemochromatosis), this novel classification includes the most common subtype, characterized by C282Y heterozygosity, and more rare subtypes characterized by mutations in non-HFE genes. The authors note that molecular classification is improving with next generation sequencing, but interpretation is not always straightforward or available. To that end, the panel advises treatment for patients with a clear clinical phenotype but no molecular characterization. Finally, the new classification omits ferroportin disease, which has a distinct phenotype (low tolerance for phlebotomy, mild anemia, iron overload in the spleen, and low–normal transferrin saturation).
Citation(s)
Author:
Girelli D et al.
Title:
Hemochromatosis classification: Update and recommendations by the BIOIRON Society.
Source:
Blood
2022
May
19; [e-pub].
(Abstract/FREE Full Text)
Empfohlen von
Brady L. Stein, MD, MHS